MATN3 : matrilin 3

Description

The MATN3 gene, located on chromosome 16, encodes for the protein matrilin-3, a crucial component of extracellular matrix (ECM). Matrilin-3 plays a vital role in the assembly and organization of collagen fibers, contributing to the structural integrity of various tissues, including cartilage, tendons, and ligaments. Its interaction with other ECM proteins, like collagen type II and aggrecan, is critical for maintaining tissue homeostasis and supporting its mechanical properties. Mutations in MATN3 can disrupt these processes, leading to a range of genetic disorders characterized by skeletal abnormalities.

Associated Diseases

• Multiple Epiphyseal Dysplasia (MED)
• Spondyloepiphyseal Dysplasia (SED)
• Kniest Dysplasia
• Stickler Syndrome
• Osteochondrodysplasia

Did you know?

Mutations in MATN3 are associated with a wide spectrum of skeletal disorders, ranging from mild to severe, highlighting the critical role of matrilin-3 in skeletal development.